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65 mtDNA Point Mutations Plus Large Deletions Panel

New York


  • Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Diabetes and Hearing Loss
  • Kearns-Sayre Syndrome (KSS)
  • Lactic acidosis
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
  • Maternally Inherited Diabetes and Deafness (MIDD)
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
  • Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
  • Pearson Syndrome
  • Sensorineural Hearing Loss (SNHL)

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

Lab Method

  • Next-Gen Sequencing

Important Information

65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)

Test Code


CPT Codes*

81401x2, 81465x1, 81479x1

ABN Required


Turnaround Time**

3-4 weeks

Preferred Specimen

Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.